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Novel Variants in the NARS2 Gene As a Cause of Infantile-Onset Severe Epilepsy Leading to Fatal Refractory Status Epilepticus: Case Study and Literature Review

Štěrbová, K.,Vlčková, M.,Hansíková, H.,Sebroňová, V.,Sedláčková, L.,Pavlíček, P.,Laššuthová, Petra

Neurogenetics（2021）

Cited 9|Views1
Key words
NARS2,Variant,Whole exome sequencing,Exomiser,Epilepsy,Neurodegeneration
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